HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

[1] Zimon M(2012)Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia Nat Genet 44 1080-1083

[2] Baets J(2017)Axonal neuropathy with neuromyotonia: there is a HINT Brain 140 868-877

[3] Almeida-Souza L(2002)Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3 J Biol Chem 277 10852-10860

[4] De Vriendt E(2019)The axonal motor neuropathy-related HINT1 protein is a zinc- and calmodulin-regulated cysteine SUMO protease Antioxid Redox Signal 31 503-520

[5] Nikodinovic J(2006)The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity J Biol Chem 281 27356-27366

[6] Parman Y(2005)The histidine triad protein Hint1 interacts with Pontin and Reptin and inhibits TCF-beta-catenin-mediated transcription J Cell Sci 118 3117-3129

[7] Peeters K(2015)The ON:OFF switch, sigma1R-HINT1 protein, controls GPCR-NMDA receptor cross-regulation: implications in neurological disorders Oncotarget 6 35458-35477

[8] Chamova T(2013)Histidine triad nucleotide-binding protein 1 (HINT1) regulates Ca(2+) signaling in mouse fibroblasts and neuronal cells via store-operated Ca(2+) entry pathway Am J Physiol Cell Physiol 304 C1098-C1104

[9] Tournev I(2018)Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy Neuromuscul Disord 28 646-651

[10] Jordanova A(2020)HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients Mol Biol Rep 47 1331-1337

[1] Zimon M(2012)Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia Nat Genet 44 1080-1083

[2] Baets J(2017)Axonal neuropathy with neuromyotonia: there is a HINT Brain 140 868-877

[3] Almeida-Souza L(2002)Adenosine monophosphoramidase activity of Hint and Hnt1 supports function of Kin28, Ccl1, and Tfb3 J Biol Chem 277 10852-10860

[4] De Vriendt E(2019)The axonal motor neuropathy-related HINT1 protein is a zinc- and calmodulin-regulated cysteine SUMO protease Antioxid Redox Signal 31 503-520

[5] Nikodinovic J(2006)The histidine triad protein Hint1 triggers apoptosis independent of its enzymatic activity J Biol Chem 281 27356-27366

[6] Parman Y(2005)The histidine triad protein Hint1 interacts with Pontin and Reptin and inhibits TCF-beta-catenin-mediated transcription J Cell Sci 118 3117-3129

[7] Peeters K(2015)The ON:OFF switch, sigma1R-HINT1 protein, controls GPCR-NMDA receptor cross-regulation: implications in neurological disorders Oncotarget 6 35458-35477

[8] Chamova T(2013)Histidine triad nucleotide-binding protein 1 (HINT1) regulates Ca(2+) signaling in mouse fibroblasts and neuronal cells via store-operated Ca(2+) entry pathway Am J Physiol Cell Physiol 304 C1098-C1104

[9] Tournev I(2018)Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy Neuromuscul Disord 28 646-651

[10] Jordanova A(2020)HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients Mol Biol Rep 47 1331-1337